Design and synthesis of substrates for newborn screening
of Maroteaux-Lamy and Morquio A syndromes.
Bioorganic & medicinal chemistry
letters
, 2010 Oct 15: 5994-6
Direct assay of delta-aminolevulinic acid dehydratase in
heme biosynthesis for the detection of porphyrias by tandem mass
spectrometry.
Analytical chemistry
, 2010 Aug 1: 6730-6
Tandem mass spectrometry for the direct assay of lysosomal
enzymes in dried blood spots: application to screening newborns
for mucopolysaccharidosis I.
Clinical chemistry
, 2008 Dec: 2067-70
Gaucher disease: mutation and polymorphism spectrum in the
glucocerebrosidase gene (GBA).
Human mutation
, 2008 May: 567-83
Successful reinstitution of agalsidase beta therapy in
Fabry disease patients with previous IgE-antibody or skin-test
reactivity to the recombinant enzyme.
Genetics in medicine : official journal of the
American College of Medical Genetics
, 2008 May: 353-8
Direct assay of enzymes in heme biosynthesis for the
detection of porphyrias by tandem mass spectrometry.
Uroporphyrinogen decarboxylase and coproporphyrinogen III
oxidase.
Analytical chemistry
, 2008 Apr 1: 2599-605
Direct assay of enzymes in heme biosynthesis for the
detection of porphyrias by tandem mass spectrometry.
Porphobilinogen deaminase.
Analytical chemistry
, 2008 Apr 1: 2606-11
Waiving informed consent in newborn screening research:
balancing social value and respect.
American journal of medical genetics. Part C,
Seminars in medical genetics
, 2008 Feb 15: 23-30
Tandem mass spectrometry for the direct assay of enzymes
in dried blood spots: application to newborn screening for
mucopolysaccharidosis II (Hunter disease).
Clinical chemistry
, 2007 Jan: 137-40
Tandem mass spectrometry in the detection of inborn errors
of metabolism for newborn screening.
Methods in molecular biology (Clifton,
N.J.)
, 2007: 143-57
The genetic tyrosinemias.
American journal of medical genetics. Part C,
Seminars in medical genetics
, 2006 May 15: 121-6
Analyses of variant acid beta-glucosidases: effects of
Gaucher disease mutations.
The Journal of biological
chemistry
, 2006 Feb 17: 4242-53
Human biochemical genetics: an insight into inborn errors
of metabolism.
Journal of Zhejiang University. Science.
B
, 2006 Feb: 165-6
Hematologically important mutations: Gaucher
disease.
Blood cells, molecules &
diseases
, 2005 Nov-Dec: 355-64
Tandem mass spectrometric analysis of dried blood spots
for screening of mucopolysaccharidosis I in newborns.
Clinical chemistry
, 2005 May: 898-900
Individualization of long-term enzyme replacement therapy
for Gaucher disease.
Genetics in medicine : official journal of the
American College of Medical Genetics
, 2005 Feb: 105-10
Phenotypic heterogeneity in patients with Gaucher disease
and the N370S/V394L genotype.
Genetic testing
, 2005 Spring: 26-9
Direct multiplex assay of lysosomal enzymes in dried blood
spots for newborn screening.
Clinical chemistry
, 2004 Oct: 1785-96
Direct multiplex assay of lysosomal enzymes in dried blood
spots for newborn screening.
Clinical chemistry
, 2004 Oct: 1785-96
Gaucher disease type 1: revised recommendations on
evaluations and monitoring for adult patients.
Seminars in hematology
, 2004 Oct: 15-22
Novel mutation, L371V, causing multigenerational Gaucher
disease in a Lebanese family.
American journal of medical genetics. Part
A
, 2004 Mar 15: 257-60
Tandem mass spectrometry for the direct assay of enzymes
in dried blood spots: application to newborn screening for Krabbe
disease.
Clinical chemistry
, 2004 Mar: 638-40
Enzyme replacement therapy and monitoring for children
with type 1 Gaucher disease: consensus recommendations.
The Journal of pediatrics
, 2004 Jan: 112-20
The 1604A (R496H) mutation in Gaucher disease:
genotype/phenotype correlation.
Blood cells, molecules &
diseases
, 2003 Sep-Oct: 187-9; discussion 190-1
Automated affinity capture-release of biotin-containing
conjugates using a lab-on-valve apparatus coupled to UV/visible
and electrospray ionization mass spectrometry.
Analytical chemistry
, 2002 Sep 15: 4702-8
Effectiveness of enzyme replacement therapy in 1028
patients with type 1 Gaucher disease after 2 to 5 years of
treatment: a report from the Gaucher Registry.
The American journal of
medicine
, 2002 Aug 1: 112-9
Variant Gaucher disease characterized by dysmorphic
features, absence of cardiovascular involvement, laryngospasm,
and compound heterozygosity for a novel mutation
(D409H/C16S).
American journal of medical
genetics
, 2002 May 15: 328-31